Genomics: Preventive Medicine

Advancing Healthcare Through Personalized Medicine, Second ed. by Priya Hays, 2021 This book provides a unique perspective on the biomedical and societal implications of personalized medicine and how it helps to mitigate the healthcare crisis and rein in ever-growing expenditure. It introduces the reader to the underlying concepts at the heart of personalized medicine. An innovative second edition, this book functions as an update to the successful first edition to include new, state-of-the-art information and advancements in the fast-paced field of personalized medicine. Chapters examine pharmacogenomics, targeted therapies, individualized diagnosis and treatment, and cancer immunotherapies. The book also features an essential discussion on how the advent of genomic technologies gives clinicians the capability to predict and diagnose disease more efficiently and offers a detailed up-to-date compilation of clinical trials in cancer leading to breakthrough therapies. The book also addresses the impact of Big Data on personalized medicine and the newfound applications of digital health and artificial intelligence. A work that advocates for a patient-centered approach, Advancing Healthcare Through Personalized Medicine, Second Edition is an invaluable text for clinicians, healthcare providers, and patients.

Clinical Genomics: Practical Applications for Adult Patient Care by Michael T. Murray; Mark Babyatski; Monica Giovanni, 2014 Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases - from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and Counseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.

Clinical Precision Medicine: a Primer by Judy S. Crabtree, 2019 Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Comprehensive Precision Medicine by Kenneth S. Ramos, 2024 Comprehensive Precision Medicine holistically integrates essential and interconnecting disciplines that contribute to the make-up of Precision Medicine as we know it today. Encompassing almost 90 contributions from eminent scholars and professionals, the book's contents are organized across 3 volumes and 7 major subject areas, each representing a key pillar driving the evolution and progression of healthcare delivery. Precision medicine approaches will transform the training and practice of all aspects of professional healthcare delivery, including medicine, nursing, pharmacy, psychology, rehabilitation, and social work. This will be a fundamental reference resource for students, post-graduate trainees, researchers, scientists and clinicians interested in precision medicine. Additionally, this resource will be of interest to regulators, policy makers, and public health practitioners across the globe. Provides comprehensive coverage and is basically a 'one-stop' resource across all disciplines contributing to precision medicine Authoritative guide edited by distinguished authorities who are shaping the advancement of precision medicine Thematically organized, allowing for easy exploration across interconnecting disciplines Digitally innovative resource with multimedia features that complement the text and provide additional learning and teaching resources

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, 7th ed. by Reed E. Pyeritz; Bruce R. Korf; Wayne W. Grody, 2020 Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications, 7th ed. by Reed E. Pyeritz; Bruce R. Korf; Wayne W. Grody, 2019 For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Epigenetics of Stress and Stress Disorders by Nagy Youssef, 2022 Epigenetics of Stress and Stress Disorders, a new volume in the Translational Epigenetics series, examines the epigenetic mechanisms involved in modifying DNA following prolonged stress or trauma. This is accomplished through the evaluation of both the physiological and molecular effects of stress on the body that can eventually lead to stress disorders. The book begins by providing a psychiatric, biological, and phenomenological foundation for understanding stress disorders, before delving into the genomics of stress disorders. From here, chapter authors discuss a range of recent epigenetic research in the area, highlighting epigenome-wide association studies (EWAS), exciting developments in noncoding RNA studies, possible effects of prolonged stress on telomere shortening, and the long-term physical effects of PTSD on the health of patients. The book also examines the effect of adversity during sensitive periods or development and across the life span. The book concludes by looking at possible transgenerational stress-induced epigenetic alterations on future offspring and important areas of research for public health, along with the potential for epigenetic therapeutics or "epidrugs."

Fast Facts on Genetics and Genomics for Nurses by Kimberly Subasic, 2023 Takes the fear out of learning about genetics and genomics for the nursing professional With its focus on the basics of genetics and genomics in nursing practice, this Fast Facts resource is the first to fill the content gap in this important area. Its streamlined format--featuring bulleted, step-by-step information and brief paragraphs--disseminates key content that is presented simply and understandably. The book examines how genetics impacts families and the care they need, and provides nurses with the genomic knowledge to advocate for personalized patient and family care, and to improve patient outcomes. Following a discussion of the science and foundations of genetics and genomics, this resource addresses their impact on patient care and application in nursing practice. It covers the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, and selection and monitoring of treatment. Case studies demonstrate how genomic concepts are applied in practice, and underscore their implications for patients with cancer, cardiovascular disease, psychiatric disorders, and autoimmune deficiencies. End of chapter questions are designed to assess knowledge. Also included are online resources that examine the latest genetic/genomic advancements and their impact on nursing. Key Features: Simplifies difficult concepts for ease of understanding Explains the difference between genetic testing and genetic screening Discusses ethical, legal, and social concerns specific to genetics and genomics Describes the application of genetics and genomics in healthcare Explains how knowledge of genetics and genomics can guide healthcare decisions Helps nurse educators teach genomic content Educates nurses in using genetic advances to improve patient outcomes

Genetics and Genomics in Medicine, 2nd ed. by Tom Strachan; Anneke Lucassen, 2023 The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..

Genetics and Genomics of Eye Disease by Xiaoyi Raymond Gao, 2020 Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Genomics in the Clinic by Antonie D. Kline; Ethylin Wang Jabs, 2023 Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime

Genomic Surveillance and Pandemic Preparedness by Rajesh Pandey, 2023 Genomic Surveillance and Pandemic Preparedness offers practical, in-depth instruction in where, how, and why genomic surveillance may be applied. Drawing heavily from the learnings during the COVID-19 pandemic, this book covers different aspects of microbes with a focus on viral genome sequencing and analysis, implementation and inference of genomic surveillance, and global data sharing best practices for future pandemic preparedness. Here, more than a dozen international authors consider host and pathogen genome interaction, population-level prevalence, individual disease susceptibility and gene protection, pathogen mutation evolutionary dynamics, RNA modulation of infection, pathogen diversity, and the role of coinfections and comorbidities in disease severity. A wide range of examples, from bacterial pathogens to fungal and viral infections, with an emphasis on recent COVID-19 analysis, are discussed. Finally, the authors provide step-by-step instruction in experimental and computational approaches for genomic surveillance, including nucleic acid isolation, sequencing library preparation, functional sequencing analysis, and bioinformatics pipelines. Throughout this book, importance is placed on inference--moving from genomic sequencing to meaningful genomic surveillance that bolsters pandemic preparedness.

The Neurobiology of Alcohol Use Disorder by Andrea de Bejczy; Bo Söderpalm, 2024 The Mechanisms Behind Developing Dependence, Sub-groups, and Novel Approaches to Treatment, Volume 174 in the Neurobiology of Alcohol Abuse series, highlights new advances in the field, with this new volume presenting interesting chapters on topics such as Substitution therapy in alcohol treatment, with a focus on mechanisms and possibilities, Designing and analyzing studies on treatments for alcohol dependence, The harm reduction approach for treatment of alcohol dependence, Current treatments for alcohol dependence, with a suggested focus on mechanisms and possibilities, Metabolomics in relation to alcohol dependence with focus on possibilities for precision medicine, and Repurposing drugs for treatment of alcohol dependence.

The New Era of Precision Medicine by Mohamad Bydon, 2023 The New Era of Precision Medicine: What it Means for Patients and the Future of Healthcare highlights the aspects of precision medicine in different specialties and offers an understanding of how a biological background integrates into clinical guidelines, the therapeutic efficacy of interventions, and disease prevention. The book explains how precision healthcare differs among countries, as well as how there is a collaboration among many laboratories to share resources and knowledge to advance the field across the globe. The book also discusses the cultural differences and cultural sensitivity that may be involved in the precision medicine approach. Finally, with regard to safety and quality outcomes, the book presents a range of current and possible future concerns related to those outcomes. Precision medicine is the new standard of quality healthcare delivery. It aims to optimize patient safety and clinical outcomes, enhance the efficacy of therapeutic interventions, and facilitate disease prevention, offering a way to customize patient care, decision-making, and clinical practice.

Noninvasive Prenatal Testing (NIPT) by Lieve Page-Christiaens; Hanns-Georg Klein, 2018 Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation.

Psychiatric Genomics by Evangelia Eirini Tsermpini; Martin Alda; George P. Patrinos, 2022 Psychiatric Genomics presents and synthesizes available knowledge in the field of psychiatric genomics, offering methodologies to advance new research and aid clinical translation. After providing an introduction to genomics and psychiatry, international experts discuss the genomic basis of schizophrenia, bipolar disorder, depression, personality disorders, anxiety disorders, addictions, eating disorders, and sleep disorders, among other disorders. In addition, recommendations for next steps in clinical implementation and drug discovery are discussed in-depth, with chapters dedicated to pharmacogenomics and antipsychotics, antidepressants and mood stabilizers, adverse drug reactions, implementation of pharmacogenomics in psychiatric clinics, and ethical issues. Finally, methods sections provide a solid grounding in research approaches and computational analytics, from using animal models in psychiatric genomics and accessing biobanks, to employing computational analysis, genome-wide association studies (GWAS), brain pathophysiology, and endophenotypes in psychiatric research. Thoroughly examines the genetic mechanisms underlying a broad range of psychiatric disorders Offers genomic methodologies and analytical approaches supporting new research and clinical translation, including personalized diagnosis and treatment models Features chapter contributions from international leaders in the field

Stress: Genetics, Epigenetics and Genomics by George Fink, 2021 This fourth volume in the Handbook of Stress series, Stress: Genetics, Epigenetics and Genomics, deals with the influence that genetics, epigenetics, and genomics have on the effects of and responses to stress. Chapters refer to epigenetic mechanisms that involve DNA methylation, histone modification, and/or noncoding RNA-associated gene activation or silencing. There is also coverage of epigenetic mechanisms in stress-related transgenerational transmission of characteristics, and how these may help explain heritability in some complex human diseases. The Handbook of Stress series, comprised of self-contained volumes that each focus on a specific stress area, covers the significant advances made since the publication of Elsevier's Encyclopedia of Stress (2000 and 2007). Volume 4 is ideal for graduate students, post-doctoral fellows, faculty and clinicians interested in stress genetics, epigenetics and genomics involved in neuroendocrinology, neuroscience, biomedicine, endocrinology, psychology, psychiatry and the social sciences

A Theranostic and Precision Medicine Approach for Female-Specific Cancers by Rama Rao Malla; Ganji Purnachandra Nagaraju, 2021 A Theranostic and Precision Medicine Approach for Female-Specific Cancers provides information regarding ongoing research and clinical data surrounding female specific cancers (breast, cervical, ovarian and endometrial cancers). The book encompasses detailed descriptions about diagnostics and therapeutic options for easy understanding, focusing on the subject matter with a broader range of treatment options. In addition, it explores new theranostics, i.e., diagnostic, therapeutic and precision medicine strategies currently being developed for FSCs. This book is a valuable resource for cancer researchers, clinicians, graduate students and other members of biomedical field who need to understand the most recent and promising approaches to manage FSCs.